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| Study ID | Variant ID | Variant Region type | Variant Call type | Sampleset ID | Method | Analysis ID | Validation | Variant samples | Subject phenotype | Clinical Interpretation | Assembly | Accession | Chr | Outer-Start | Start | Inner-Start | Inner-End | End | Outer-End | Placement Type | Remap Score |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| estd210 | esv4002915 | inversion | Yes | GRCh37 (hg19) | NC_000002.11 | 2 | 22350265 | 162196595 | Submitted genomic | ||||||||||||
| estd210 | esv4002915 | inversion | Yes | GRCh37 (hg19) | NC_000002.11 | 2 | 22350265 | 162196595 | Submitted genomic | ||||||||||||
| estd210 | esv4002915 | inversion | Yes | GRCh38.p12 | NC_000002.12 | 2 | 22127393 | 161340084 | Remapped | 0.99547 | |||||||||||
| estd210 | esv4002916 | inversion | Yes | GRCh37 (hg19) | NC_000002.11 | 2 | 185679985 | 188161779 | Submitted genomic | ||||||||||||
| estd210 | esv4002916 | inversion | Yes | GRCh37 (hg19) | NC_000002.11 | 2 | 185679985 | 188161779 | Submitted genomic | ||||||||||||
| estd210 | esv4002916 | inversion | Yes | GRCh38.p12 | NC_000002.12 | 2 | 184815258 | 187297052 | Remapped | 1 | |||||||||||
| estd210 | esv4002917 | copy number variation | No | GRCh37 (hg19) | NC_000019.9 | 19 | 54800252 | 54809071 | Submitted genomic | ||||||||||||
| estd210 | esv4002917 | copy number variation | No | GRCh37 (hg19) | NC_000019.9 | 19 | 54800252 | 54809071 | Submitted genomic | ||||||||||||
| estd210 | esv4002917 | copy number variation | No | GRCh38.p12 | NT_187693.1 | 19|NT_187693.1 | 271366 | 280185 | Remapped | 1 | |||||||||||
| estd210 | esv4002917 | copy number variation | No | GRCh38.p12 | NW_003571054.1 | 19|NW_003571054.1 | 271137 | 279956 | Remapped | 1 | |||||||||||
| estd210 | esv4002917 | copy number variation | No | GRCh38.p12 | NW_003571055.2 | 19|NW_003571055.2 | 271018 | 279838 | Remapped | 1.00011 | |||||||||||
| estd210 | esv4002917 | copy number variation | No | GRCh38.p12 | NW_003571061.2 | 19|NW_003571061.2 | 271393 | 280212 | Remapped | 1 | |||||||||||
| estd210 | esv4002935 | translocation | Yes | GRCh37 (hg19) | NC_000002.11 | 2 | 8181790 | 8181790 | Submitted genomic | ||||||||||||
| estd210 | esv4002935 | translocation | Yes | GRCh37 (hg19) | NC_000007.13 | 7 | 135245984 | 135245984 | Submitted genomic | ||||||||||||
| estd210 | esv4002935 | translocation | Yes | GRCh37 (hg19) | NC_000002.11 | 2 | 8181790 | 8181790 | Submitted genomic | ||||||||||||
| estd210 | esv4002935 | translocation | Yes | GRCh37 (hg19) | NC_000007.13 | 7 | 135245984 | 135245984 | Submitted genomic | ||||||||||||
| estd210 | esv4002935 | translocation | Yes | GRCh38.p12 | NC_000002.12 | 2 | 8041660 | 8041660 | Remapped | 1 | |||||||||||
| estd210 | esv4002935 | translocation | Yes | GRCh38.p12 | NC_000007.14 | 7 | 135561236 | 135561236 | Remapped | 1 |